Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Fcnb'

522474

Institutional Source

Beutler Lab

Gene Symbol

Fcnb

Ensembl Gene

ENSMUSG00000026835

Gene Name

ficolin B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28076378-28084885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28078289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 219 (K219E)

Ref Sequence

ENSEMBL: ENSMUSP00000112625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]

AlphaFold

O70497

Predicted Effect

probably damaging
Transcript: ENSMUST00000028179
AA Change: K219E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: K219E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	39	99	1.1e-11	PFAM
FBG	101	314	1.78e-115	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117486
AA Change: K219E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
AA Change: K219E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	39	99	6.7e-12	PFAM
FBG	101	250	1.33e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135472

SMART Domains

Protein: ENSMUSP00000119098
Gene: ENSMUSG00000026835

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Collagen	38	81	5.3e-10	PFAM
internal_repeat_1	86	107	1.19e-5	PROSPERO

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Streptococcus pneumoniae infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,625,874	Q334*	probably null	Het
4933406M09Rik	T	A	1: 134,390,888	V466D	probably damaging	Het
Abhd15	T	C	11: 77,516,022	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,171,482	T27A	probably benign	Het
Ankar	A	G	1: 72,681,808		probably null	Het
Ap2a2	T	C	7: 141,602,307	V183A	probably benign	Het
Arhgef37	G	A	18: 61,518,052	A134V	probably benign	Het
Col3a1	C	A	1: 45,331,534		probably benign	Het
Cxcr5	A	G	9: 44,513,979	V127A	probably damaging	Het
Eif4b	T	A	15: 102,092,987		probably benign	Het
Ext2	A	G	2: 93,806,085	V228A	probably damaging	Het
Fam83h	T	C	15: 76,002,053	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 28,093,538	D989G	probably damaging	Het
Fchsd1	T	C	18: 37,967,268		probably null	Het
Fndc7	T	C	3: 108,870,575	E355G	probably damaging	Het
Glis3	T	C	19: 28,298,853	H746R	probably benign	Het
Glod4	A	G	11: 76,237,785	V74A	probably damaging	Het
Gm10436	T	C	12: 88,177,587	H152R	possibly damaging	Het
Gpc6	T	C	14: 117,964,713	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,428,224	D337G	probably damaging	Het
Hnf1a	T	C	5: 114,955,961	T190A	probably benign	Het
Iqgap1	G	C	7: 80,730,326	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,595,182	F299L	possibly damaging	Het
Kif1bp	C	A	10: 62,559,658		probably null	Het
Kif26b	T	C	1: 178,529,573	V4A	unknown	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,628,077	R36S	unknown	Het
Lman1l	A	G	9: 57,620,643	S10P	possibly damaging	Het
Lrpprc	T	C	17: 84,751,353	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mga	T	A	2: 119,960,907	N2424K	probably damaging	Het
Mpdz	G	T	4: 81,287,733	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,946,588		probably null	Het
Mtus1	G	A	8: 41,041,508	S29L	possibly damaging	Het
Myo15	A	T	11: 60,478,487	H691L	possibly damaging	Het
Nbea	T	C	3: 55,717,843	T2276A	probably damaging	Het
Npas4	A	G	19: 4,985,983	S718P	probably damaging	Het
Ntrk2	T	A	13: 58,861,356	N320K	possibly damaging	Het
Nup214	T	A	2: 31,991,372	I414N	possibly damaging	Het
Oas2	A	G	5: 120,738,363	F15S	probably damaging	Het
Olfr1474	T	C	19: 13,471,617	Y216H	probably damaging	Het
Olfr625-ps1	T	C	7: 103,683,078	I110T	probably damaging	Het
Pabpc6	A	G	17: 9,669,599	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,191,395	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,467,081	M190T	probably damaging	Het
Pogk	T	C	1: 166,399,422	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,268,538	L294P	probably benign	Het
Ptprn2	T	A	12: 116,872,038	I331K	probably benign	Het
Ptpro	T	G	6: 137,393,675	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,517	L1202*	probably null	Het
Rab37	A	G	11: 115,157,963	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,458,160	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,270,727	D148E	probably damaging	Het
Rraga	G	A	4: 86,576,328	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,437,503	V73A	probably benign	Het
Siglec1	T	C	2: 131,081,307	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,912,602	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,411,757	A110T	probably damaging	Het
Thsd1	T	C	8: 22,243,717	V260A	probably benign	Het
Tpbg	T	A	9: 85,844,485	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,351,585	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,162,965	I108T	probably benign	Het
Vmn2r50	T	C	7: 10,037,717	I686V	probably damaging	Het
Zdhhc20	C	T	14: 57,840,832	R329K	probably benign	Het
Zfp64	A	G	2: 168,935,209		probably null	Het
Zfp941	C	T	7: 140,812,750	R232H	probably benign	Het

Other mutations in Fcnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Fcnb	APN	2	28076801	missense	probably benign	0.04
IGL02130:Fcnb	APN	2	28084789	critical splice donor site	probably null
IGL02348:Fcnb	APN	2	28084830	missense	possibly damaging	0.88
IGL02504:Fcnb	APN	2	28076594	missense	probably damaging	1.00
IGL03118:Fcnb	APN	2	28076618	missense	probably benign	0.06
IGL03179:Fcnb	APN	2	28076634	missense	possibly damaging	0.93
R0217:Fcnb	UTSW	2	28079677	missense	probably benign	0.02
R0899:Fcnb	UTSW	2	28076779	missense	probably damaging	1.00
R3901:Fcnb	UTSW	2	28079196	missense	probably damaging	1.00
R5845:Fcnb	UTSW	2	28079621	critical splice donor site	probably null
R5911:Fcnb	UTSW	2	28076689	missense	probably damaging	1.00
R6065:Fcnb	UTSW	2	28079910	missense	probably damaging	1.00
R6188:Fcnb	UTSW	2	28079190	missense	possibly damaging	0.94
R8058:Fcnb	UTSW	2	28079695	missense	probably damaging	1.00
R8194:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8195:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8196:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8198:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8199:Fcnb	UTSW	2	28078318	missense	possibly damaging	0.65
R8678:Fcnb	UTSW	2	28078349	missense	possibly damaging	0.61
R9224:Fcnb	UTSW	2	28079148	missense	probably damaging	1.00
R9261:Fcnb	UTSW	2	28079624	missense	probably damaging	0.99
X0024:Fcnb	UTSW	2	28076691	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTATTTCGCTGATGTCAACCC -3'
(R):5'- CAAAGATGTTGGTACCTACCCCG -3'

Sequencing Primer
(F):5'- TGATGTCAACCCTAGGCTCAAGG -3'
(R):5'- CCCGGTGAATTCCAAGTTCAG -3'

Posted On

2018-06-06